ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, spondylocheirodysplastic type by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_152264.4(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_152264.4(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_152264.4(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_152264.4(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_152264.4(SLC39A13):c.78C>A (p.Leu26=) rs140844921

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.